DO_rare_slim NCIthesaurus has material basis in disease has basis in autosomal dominant disease chromosomal deletion syndrome DiGeorge syndrome MESH:D004062 22q11.2 deletion syndrome SNOMEDCT_US_2025_09_01:190991007 ICD9CM:279.11 disease_ontology GARD:10299 DOID:11198 NCI:C2989 UMLS_CUI:C0012236 A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. DiGeorge sequence DiGeorge's syndrome ICD10CM:D82.1 MIM:188400 OMIM mapping confirmed by DO. [SN]. Pharyngeal pouch syndrome syndrome autosomal dominant inheritance deletion chromosome gene